research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
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research 603 Pathological modeling of epidermolysis bullosa simplex (EBS) using induced pluripotent stem cells (iPSC)
Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
research Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research The Role of Nrf2 in Hearing Loss
Activating Nrf2 can help protect against hearing loss.
research Regeneration of a bioengineered 3D integumentary organ system from iPS cells
Scientists created a functional 3D skin system from stem cells that can be transplanted into wounds.
research Epidermolysis Bullosa Simplex Keratinocytes Show Disturbed Mitochondrial Positioning and Activity
Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
research Diffuse partial woolly hair in a patient with epidermolysis bullosa simplex with mottled pigmentation
A patient with a rare hair condition and skin disorder showed hair improvement after treatment.
research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research 707 Guiding skin organoid generation via extracellular matrix cues and spatially controlled morphogen gradients
Scientists improved how to make skin-like structures from stem cells using special gels and a device that controls growth signals, leading to better hair and skin features.
research Pathogenesis and clinical features of alopecia in epidermolysis bullosa: A systematic review
Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.
research 559 Visualization of sweat suppression following botulinum toxin A by soluble microneedle arrays
Microneedle arrays deliver botulinum toxin effectively for sweat suppression, similar to injections.
research 201 Pain digital biomarker detecting by epidermal biopotential flexible sensor and AI-based system
A new pain-measuring system using sensors and AI can effectively detect pain in mice, which may help assess pain in humans and develop treatments.
research Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives
Promising treatments for EBS include anti-inflammatory drugs, antibiotics, creams, mTOR inhibitors, and gene editing, but more trials are needed.
research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
research Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
research Dynamic Behavior and Spontaneous Differentiation of Mouse Embryoid Bodies on Hydrogel Substrates of Different Surface Charge and Chemical Structures
Hydrogel surface properties affect mouse embryoid body differentiation.
research 454 Modeling epidermolysis bullosa simplex with cardiomyopathy using KLHL24-mutant pluripotent stem cells.
KLHL24-mutant stem cells help understand skin and heart disease.
research Safety of Janus Kinase inhibitors in Patients with Alopecia Areata: A Systematic Review
JAK inhibitors for alopecia areata are linked to minor side effects like headache and acne, but not to an increased risk of serious adverse events.
research Trichoscopy of alopecia areata: An update
Trichoscopy helps diagnose and monitor alopecia areata by looking at a combination of specific hair and scalp features.
research Hair regrowth in a male patient with extensive androgenetic alopecia on estrogen therapy
Estrogen therapy helped regrow hair in a bald man.
research Comparison of allogeneic stem cell transplant conditioning regimens in AML, MDS and CLL
Busulfan/cyclophosphamide and total bone irradiation are equally effective for AML transplants.
research Potential health risk and levels of heavy metals in water resources of lead–zinc mining communities of Abakaliki, southeast Nigeria
Water near Abakaliki mines has high toxic metal levels, posing health risks.
research Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women
The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.